AI Unveils Key Alzheimer’s Gene and Potential Treatment

James Ding
May 16, 2025 03:52

Researchers at UCSD have used AI to identify a gene, PHGDH, as a cause of Alzheimer’s, leading to potential new treatment options.

Artificial intelligence is revolutionizing the understanding of Alzheimer’s disease, as researchers from the University of California, San Diego (UCSD) have discovered a gene that plays a direct role in causing the condition. Previously deemed just an indicator, the gene PHGDH has now been identified as a causative factor, offering new avenues for treatment, according to NVIDIA.

Breakthrough Findings in Alzheimer’s Research

Published in the journal Cell, the UCSD study reveals that PHGDH disrupts normal gene regulation in the brain, leading to spontaneous Alzheimer’s. This discovery is pivotal, as genetic mutations account for only a small fraction of Alzheimer’s cases among the over 7 million Americans affected by the disease. Identifying non-genetic causes is crucial for advancing treatment.

AI’s Role in Identifying Key Gene Functions

Leveraging advanced AI models, researchers identified PHGDH’s harmful secondary functions. The study utilized NVIDIA RTX A6000 and H100 GPUs for computationally intensive models, including the Latent Prompt Transformer, to explore PHGDH’s role in disease progression.

Potential Treatment through AI-Driven Discovery

Beyond identifying the gene’s role, the AI model pointed to a promising therapeutic candidate, NCT-503, a small molecule capable of blocking PHGDH’s damaging activity without affecting its essential functions. Tests in mice showed significant slowing of disease progression and cognitive improvement, marking a potential breakthrough in treatment.

Future Directions and Clinical Implications

Sheng Zhong, a senior author and professor at UCSD, highlighted the potential for developing entirely new classes of small molecules for Alzheimer’s treatment. The research team plans to optimize the compound and conduct further pre-clinical research before seeking FDA approval.

This groundbreaking research underscores AI’s transformative impact on medical science, particularly in unraveling complex biological interactions and developing novel therapeutic approaches.

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